Canonical Allele Identifier: CA5126608
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 703581
ClinVar RCV Id: RCV000873258 RCV002346012
dbSNP Id: rs752209653
ExAC: 9:95481724 C / A
gnomAD v2: 9-95481724-C-A
gnomAD v3: 9-92719442-C-A
gnomAD v4: 9-92719442-C-A
MyVariant Identifiers: chr9:g.95481724C>A (hg19) chr9:g.92719442C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719442C>A , CM000671.2:g.92719442C>A GRCh38
NC_000009.11:g.95481724C>A , CM000671.1:g.95481724C>A GRCh37
NC_000009.10:g.94521545C>A NCBI36
NG_033908.1:g.50360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1203G>T MANE Select ENSP00000349351.6:p.Gln401His
ENST00000356884.10:c.1203G>T ENSP00000349351.6:p.Gln401His
ENST00000375512.3:c.1203G>T ENSP00000364662.3:p.Gln401His
NM_001003800.1:c.1203G>T NP_001003800.1:p.Gln401His
NM_015250.3:c.1203G>T NP_056065.1:p.Gln401His
XM_017014551.1:c.1284G>T XP_016870040.1:p.Gln428His
NM_001003800.2:c.1203G>T MANE Select NP_001003800.1:p.Gln401His
NM_015250.4:c.1203G>T NP_056065.1:p.Gln401His
Search 100 bp 5'
Search 100 bp 3'